Childhood onset dystonia, chorea or related movement disorder
Gene: TARS2

TARS2 (threonyl-tRNA synthetase 2, mitochondrial (putative))
EnsemblGeneIds (GRCh38): ENSG00000143374
EnsemblGeneIds (GRCh37): ENSG00000143374
OMIM: 612805, Gene2Phenotype
TARS2 is in 7 panels

2 reviews

Sarah Leigh (Genomics England Curator)

Green List (high evidence)

The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Created: 14 Mar 2022, 10:59 a.m. | Last Modified: 14 Mar 2022, 10:59 a.m.

Panel Version: 1.217

The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Created: 3 Mar 2022, 4:45 p.m. | Last Modified: 3 Mar 2022, 4:45 p.m.

Panel Version: 1.212

Comment on list classification: There is enough evidence for this gene to be rated GREEN at the next major review.
Created: 14 Dec 2021, 12:55 p.m. | Last Modified: 14 Dec 2021, 12:55 p.m.

Panel Version: 1.209

Associated with relevant phenotype in OMIM, but not associated with phenotype in Gen2Phen. At least 11 variants reported in at least 7 unrelated cases with a varied phenotype, including encephalomyopathy, epilepsy, dystonia, hyperhidrosis and severe hearing impairment. At least three unrelated cases of dystonia reported. Supportive functional studies were also presented PMID: 34508595.
Created: 14 Dec 2021, 12:49 p.m. | Last Modified: 14 Dec 2021, 12:54 p.m.

Panel Version: 1.207

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Combined oxidative phosphorylation deficiency 21 OMIM:615918; combined oxidative phosphorylation defect type 21 MONDO:0014398

Publications

Created: 14 Dec 2021, 12:49 p.m.
Last Modified: 14 Dec 2021, 12:54 p.m.
Panel version: 1.217

James Polke (Neurogenetics Laboratory, Institute of Neurology, London)

Red List (low evidence)

Created: 9 Jul 2019, 4:25 p.m.
Last Modified: 9 Jul 2019, 4:25 p.m.
Panel version: Imported from GMS Neurology specialist test group-Movement disorders - childhood onset-LNGLH_v2 panel version 0.9

Details

Mode of Inheritance

BIALLELIC, autosomal or pseudoautosomal

Sources

Expert Review Green
London North GLH

Phenotypes

Combined oxidative phosphorylation deficiency 21, OMIM:615918

OMIM

612805

Clinvar variants

Variants in TARS2

Penetrance

None

Publications

Panels with this gene

History Filter Activity

30 Aug 2022, Gel status: 3

Set Phenotypes

Arina Puzriakova (Genomics England Curator)

Phenotypes for gene: TARS2 were changed from to Combined oxidative phosphorylation deficiency 21, OMIM:615918

3 Mar 2022, Gel status: 3